ASCO 2021 Preview: Making Breast Cancer Risk Assessment More Inclusive


We are already looking forward to one of the biggest cancer-focused conferences of the year: the annual meeting of the American Society of Clinical Oncology. The all-digital ASCO 2021 event promises to be a powerhouse of great research, clinical results, and exciting innovations in oncology.

This year, we’re particularly eager for a presentation from Holly Pederson, director of Medical Breast Services at Cleveland Clinic, who has worked closely with scientists from Myriad Genetics to validate the use of a new method for polygenic breast cancer risk assessments in women of all ancestries. This validation is the first of its kind in breast cancer.

Myriad Genetics currently offers riskScore®, a polygenic risk score (PRS) tool to women at no additional cost as part of the market-leading Myriad myRisk® Hereditary Cancer test. riskScore provides more comprehensive, personalized and actionable insight for women who qualify for myRisk. It incorporates more than 80 validated genetic markers and offers a precise estimate of a 5-year and lifetime risk to develop breast cancer.

riskScore is based on what genetic scientists call a PRS, meaning it generates results from a number of underlying genetic variants. The challenge faced by polygenic risk scores in general is that they tend to be most accurate for people of European descent. That’s because the genetic databases used to identify key variants are predominantly populated by genomes from people of European descent. Therefore, that population is the most studied and hence we have not had a strong enough representation of other ancestries to make equally reliable predictions about health based on genetic variants.

At Myriad Genetics, we believe that polygenic risk scores need to be validated and available to people of all ancestries. In the presentation Dr. Pederson will be giving at ASCO next month, she will describe the tremendous effort we’ve undertaken in collaboration with her and other scientists to ensure that our riskScore tool is applicable to women of any ancestry. She’ll report data from a study of more than 275,000 women showing that with detailed ancestry weighting our riskScore tool delivers clinically useful breast cancer risk prediction results for all women, regardless of ancestry — making it the first polygenic risk score to do so. It’s a huge step forward for the hereditary genetic testing field.

Once the presentation has taken place, we’ll report back on the blog with more data from Dr. Pederson’s presentation. Stay tuned!

T.J. Slavin, M.D., FACMG, DABMD, is triple-board-certified in clinical genetics, molecular diagnostics and pediatrics. Previous to his position at Myriad Genetics, he served as assistant professor in the departments of Medical Oncology & Therapeutics Research and Population Sciences at City of Hope National Medical Center. He has served on National Comprehensive Cancer Network (NCCN) committees for both the genetics of and screening for colorectal cancer. He serves on three ClinGen expert working group committees for variant classification of breast, gastrointestinal and ovarian cancer predisposition genes. Focused on expanding genetics education for cancer care providers, Dr. Slavin has helped shape both the American Society of Clinical Oncology’s (ASCO) University as well as City of Hope’s hereditary genomics training program.